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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 33764

FusionGeneSummary for SHC2_PTEN

check button Fusion gene summary
Fusion gene informationFusion gene name: SHC2_PTEN
Fusion gene ID: 33764
HgeneTgene
Gene symbol

SHC2

PTEN

Gene ID

25759

5728

Gene nameSHC adaptor protein 2phosphatase and tensin homolog
SynonymsSCK|SHCB|SLI10q23del|BZS|CWS1|DEC|GLM2|MHAM|MMAC1|PTEN1|PTENbeta|TEP1
Cytomap

19p13.3

10q23.31

Type of geneprotein-codingprotein-coding
DescriptionSHC-transforming protein 2SH2 domain protein C2SHC (Src homology 2 domain containing) transforming protein 2SHC-transforming protein Bneuronal Shc adaptor homologprotein Scksrc homology 2 domain-containing-transforming protein C2phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTENMMAC1 phosphatase and tensin homolog deleted on chromosome 10mitochondrial PTENalphamitochondrial phosphatase and tensin protein alphamutated in multip
Modification date2018052320180527
UniProtAcc

P98077

P60484

Ensembl transtripts involved in fusion geneENST00000264554, ENST00000371953, 
ENST00000472832, 
Fusion gene scores* DoF score6 X 4 X 4=967 X 6 X 4=168
# samples 67
** MAII scorelog2(6/96*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SHC2 [Title/Abstract] AND PTEN [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationDDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgenePTEN

GO:0001933

negative regulation of protein phosphorylation

20123964

TgenePTEN

GO:0006470

protein dephosphorylation

9256433

TgenePTEN

GO:0008285

negative regulation of cell proliferation

19057511

TgenePTEN

GO:0031658

negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle

21241890

TgenePTEN

GO:0046855

inositol phosphate dephosphorylation

9593664

TgenePTEN

GO:0046856

phosphatidylinositol dephosphorylation

9593664|9811831

TgenePTEN

GO:0050821

protein stabilization

20123964

TgenePTEN

GO:0060070

canonical Wnt signaling pathway

20123964

TgenePTEN

GO:1904668

positive regulation of ubiquitin protein ligase activity

21241890

TgenePTEN

GO:2000060

positive regulation of ubiquitin-dependent protein catabolic process

21241890

TgenePTEN

GO:2000134

negative regulation of G1/S transition of mitotic cell cycle

21241890


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVSKCMTCGA-D3-A2JA-06ASHC2chr19

438718

-PTENchr10

89685270

+
TCGALDSKCMTCGA-D3-A2JA-06ASHC2chr19

438718

-PTENchr10

89653782

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shitENST00000264554ENST00000371953SHC2chr19

438718

-PTENchr10

89685270

+
5CDS-intronENST00000264554ENST00000472832SHC2chr19

438718

-PTENchr10

89685270

+
Frame-shitENST00000264554ENST00000371953SHC2chr19

438718

-PTENchr10

89653782

+
5CDS-intronENST00000264554ENST00000472832SHC2chr19

438718

-PTENchr10

89653782

+

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FusionProtFeatures for SHC2_PTEN


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SHC2

P98077

PTEN

P60484

Signaling adapter that couples activated growth factorreceptors to signaling pathway in neurons. Involved in the signaltransduction pathways of neurotrophin-activated Trk receptors incortical neurons (By similarity). {ECO:0000250}. Tumor suppressor. Acts as a dual-specificity proteinphosphatase, dephosphorylating tyrosine-, serine- and threonine-phosphorylated proteins. Also acts as a lipid phosphatase,removing the phosphate in the D3 position of the inositol ringfrom phosphatidylinositol 3,4,5-trisphosphate,phosphatidylinositol 3,4-diphosphate, phosphatidylinositol 3-phosphate and inositol 1,3,4,5-tetrakisphosphate with order ofsubstrate preference in vitro PtdIns(3,4,5)P3 > PtdIns(3,4)P2 >PtdIns3P > Ins(1,3,4,5)P4 (PubMed:26504226). The lipid phosphataseactivity is critical for its tumor suppressor function.Antagonizes the PI3K-AKT/PKB signaling pathway bydephosphorylating phosphoinositides and thereby modulating cellcycle progression and cell survival. The unphosphorylated formcooperates with AIP1 to suppress AKT1 activation. Dephosphorylatestyrosine-phosphorylated focal adhesion kinase and inhibits cellmigration and integrin-mediated cell spreading and focal adhesionformation. Plays a role as a key modulator of the AKT-mTORsignaling pathway controlling the tempo of the process of newbornneurons integration during adult neurogenesis, including correctneuron positioning, dendritic development and synapse formation.May be a negative regulator of insulin signaling and glucosemetabolism in adipose tissue. The nuclear monoubiquitinated formpossesses greater apoptotic potential, whereas the cytoplasmicnonubiquitinated form induces less tumor suppressive ability. Inmotile cells, suppresses the formation of lateral pseudopods andthereby promotes cell polarization and directed movement.{ECO:0000269|PubMed:26504226}. Isoform alpha: Functional kinase, like isoform 1 itantagonizes the PI3K-AKT/PKB signaling pathway. Plays a role inmitochondrial energetic metabolism by promoting COX activity andATP production, via collaboration with isoform 1 in increasingprotein levels of PINK1.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for SHC2_PTEN


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for SHC2_PTEN


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
SHC2KDR, ARHGAP32, FLT1, EGFR, ERBB2, ERRFI1, GRB2, SHC1PTENAR, ESR1, UBE2L3, UBE2I, TP53, CSNK2A1, CSNK2A2, UTP14A, ANG, CHGB, COPS6, HBA1, PTK2, MVP, MAGI3, CAV1, PXN, NEDD4, NDFIP1, NDFIP2, XIAP, CASP8, CCNE2, IRS4, PPP2R4, WNT4, QRFPR, ARHGAP26, G3BP2, CENPC, DBF4B, GPR113, INHBE, GFRA2, SMTN, KRT14, AMHR2, PTK2B, CRKL, MAP2K6, PKN2, PDGFRA, PINK1, P3H4, PTPN14, TCEB3C, BAP1, WWP2, MED12, ZNF787, FBN2, TTBK2, RPL14, EEF1A2, FRK, AKT1, PPP3CA, EGR1, SLC9A3R1, STUB1, ELAVL1, PPP1CA, SHARPIN, BMI1, KAT2B, PARK7, CDC27, ANAPC4, ANAPC5, ANAPC7, FZR1, NCOA3, FBXW7, LATS1, CBL, EPHB1, USP7, USP8, USP10, USP13, USP39, USP4, UBC, CDH1, CTNNB1, WWP1, TNKS, TNKS2, RNF146, TXNDC11, CFB, YME1L1, SUV39H1, HES5, GPER1, MXD1, TTC31, EME2, OPRL1, OSBP2, RFTN1, PBX3, FBXL6, PIGN, POLM, TUBA1A, UBAP2L, TRIM8, CDC42EP5, ST8SIA6, ENO2, BLOC1S1, HES6, IFIH1, CYB5R3, PSMB2, SLC36A1, THBD, CARS2, NOTCH1, PPAP2B, UBE2D1, HEATR6, LLGL2, SLC25A6, KIAA0196, PKMYT1, HAGHL, RASSF2, SOCS1, TRIM24, ACACA, PC, PCCA, PCCB, MCCC2, MCCC1, HSPA8, DBT, HSP90AA1, HSPA1A, TUBA3C, HSPA1L, TUBB2A, AMOT, ETS1, HSPA6, STIP1, TUBB4B, ACACB, HSP90AB1, HSPA2, BCKDHA, TUBA1C, HNRNPU, PPP1R10, TUBB3, BEX1, CXCL1, IL24, OSGIN1, POLDIP2, PELO, RPS2, RPL10A, RPLP0, SSR4, ANXA2, FASN, AKAP12, DBN1, PRDX1, DSP, NME1, HSD17B1, UTRN, SPTAN1, RPS9, RPL38, GNAI1, GNAI2, MPRIP, RPS15A, GSTM2, SKP1, EEF2, GNB4, RPL27, SSFA2, DNAJA1, SPTBN1, LIMA1, RPL22L1, RPLP2, RPL27A, FLNB, MYO1D, TUBB, PLEC, MTHFD2, LDHB, RPS17, SDC1, RPS25, CFL1, RCC2, MYOF, RPS6, GPC1, RPL7, TUBA1B, ATP5C1, JUP, ARF4, PPL, RPL13A, RPL23, NCF1, RPS20, GPC4, RPS27, TUFM, HIST1H2AB, S100A8, MYH10, HSPD1, ATP5A1, KBTBD4, PKM, RPS4X, SLC25A5, DCAF11, S100A9, RPL12, LGALS1, MYO1B, RPS3, SDC4, RPS13, MYL12A, CALM1, SLC25A3, RPL31, SNTB2, MYO1C, SETX, RPL13, RPS26, RPS27A, C16orf13, YES1, DDB1, SDCBP, TXN, PDGFRB, OTUD3, PBK, NGB, BCAR1, SPOP, PLK1, CHEK1, BRD4, VHL, MTOR, NF1, ADA, MET, KDM6A, CDK4, CDKN2A, BRAF, PTEN, PIK3R2, PLEKHA1, PTPN13, DLG1, INS, AATK, ERBB3, PTK7, DLC1, RHOA, EIF2AK2, EGFR, ITPR3, MCRS1


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for SHC2_PTEN


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for SHC2_PTEN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePTENC0018553Hamartoma Syndrome, Multiple29CTD_human;ORPHANET;UNIPROT
TgenePTENC0033578Prostatic Neoplasms11CTD_human
TgenePTENC0265326Bannayan-Riley-Ruvalcaba Syndrome6ORPHANET;UNIPROT
TgenePTENC0376634Craniofacial Abnormalities6CTD_human
TgenePTENC3714756Intellectual Disability5CTD_human;HPO
TgenePTENC0004352Autistic Disorder4CTD_human;HPO
TgenePTENC0014170Endometrial Neoplasms4CTD_human
TgenePTENC1458155Mammary Neoplasms4CTD_human;HPO
TgenePTENC0008073Developmental Disabilities3CTD_human
TgenePTENC0025202melanoma3CTD_human;HPO
TgenePTENC0085261Proteus Syndrome3CTD_human;ORPHANET
TgenePTENC0376358Malignant neoplasm of prostate3UNIPROT
TgenePTENC0282612Prostatic Intraepithelial Neoplasias2CTD_human
TgenePTENC1168401Squamous cell carcinoma of the head and neck2CTD_human;ORPHANET;UNIPROT
TgenePTENC1854416MACROCEPHALY/AUTISM SYNDROME2CTD_human;ORPHANET;UNIPROT
TgenePTENC0001418Adenocarcinoma1CTD_human
TgenePTENC0003081Anisometropia1CTD_human
TgenePTENC0004096Asthma1CTD_human
TgenePTENC0007134Renal Cell Carcinoma1CTD_human
TgenePTENC0010606Adenoid Cystic Carcinoma1CTD_human
TgenePTENC0014173Endometrial Hyperplasia1CTD_human
TgenePTENC0015695Fatty Liver1CTD_human
TgenePTENC0017638Glioma1CTD_human
TgenePTENC0018916Hemangioma1CTD_human;HPO
TgenePTENC0020538Hypertensive disease1CTD_human
TgenePTENC0020564Hypertrophy1CTD_human
TgenePTENC0021655Insulin Resistance1CTD_human
TgenePTENC0023014Language Development Disorders1CTD_human
TgenePTENC0023418leukemia1CTD_human
TgenePTENC0023798Lipoma1CTD_human;HPO
TgenePTENC0023801Lipomatosis1CTD_human
TgenePTENC0023976Long QT Syndrome1CTD_human
TgenePTENC0024121Lung Neoplasms1CTD_human
TgenePTENC0024299Lymphoma1CTD_human
TgenePTENC0025286Meningioma1CTD_human;HPO
TgenePTENC0026613Motor Skills Disorders1CTD_human
TgenePTENC0027055Myocardial Reperfusion Injury1CTD_human
TgenePTENC0027626Neoplasm Invasiveness1CTD_human
TgenePTENC0027627Neoplasm Metastasis1CTD_human
TgenePTENC0030297Pancreatic Neoplasm1CTD_human
TgenePTENC0035126Reperfusion Injury1CTD_human
TgenePTENC0036920Sezary Syndrome1CTD_human
TgenePTENC0037274Dermatologic disorders1CTD_human
TgenePTENC0149925Small cell carcinoma of lung1CTD_human
TgenePTENC0152427Polydactyly1CTD_human
TgenePTENC0175704LEOPARD Syndrome1CTD_human
TgenePTENC0206669Hepatocellular Adenoma1CTD_human
TgenePTENC0206698Cholangiocarcinoma1CTD_human
TgenePTENC0476089Endometrial Carcinoma1HPO;UNIPROT
TgenePTENC0919267ovarian neoplasm1CTD_human;HPO
TgenePTENC1848599VACTERL Association With Hydrocephalus1CTD_human
TgenePTENC2239176Liver carcinoma1CTD_human
TgenePTENC2751642GLIOMA SUSCEPTIBILITY 21UNIPROT
TgenePTENC2931822Nasopharyngeal carcinoma1CTD_human